TY - JOUR
T1 - CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA
T2 - A Long-Term Follow-Up Study
AU - Nguyen, Xuan-Thanh-An
AU - Talib, Mays
AU - van Cauwenbergh, Caroline
AU - van Schooneveld, Mary J.
AU - Fiocco, Marta
AU - Wijnholds, Jan
AU - ten Brink, Jacoline B.
AU - Florijn, Ralph J.
AU - Schalij-Delfos, Nicoline E.
AU - Dagnelie, Gislin
AU - van Genderen, Maria M.
AU - de Baere, Elfride
AU - Meester-Smoor, Magda A.
AU - de Zaeytijd, Julie
AU - Balikova, Irina
AU - Thiadens, Alberta A.
AU - Hoyng, Carel B.
AU - Klaver, Caroline C.
AU - van den Born, L. Ingeborgh
AU - Bergen, Arthur A.
AU - Leroy, Bart P.
AU - Boon, Camiel J. F.
N1 - Publisher Copyright: Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the Opthalmic Communications Society, Inc. Copyright: This record is sourced from MEDLINE/PubMed, a database of the U.S. National Library of Medicine
PY - 2021/1/1
Y1 - 2021/1/1
N2 - PURPOSE: To investigate the natural history of RHO-associated retinitis pigmentosa (RP). METHODS: A multicenter, medical chart review of 100 patients with autosomal dominant RHO-associated RP. RESULTS: Based on visual fields, time-to-event analysis revealed median ages of 52 and 79 years to reach low vision (central visual field <20°) and blindness (central visual field <10°), respectively. For the best-corrected visual acuity (BCVA), the median age to reach mild impairment (20/67 ≤ BCVA < 20/40) was 72 years, whereas this could not be computed for lower acuities. Disease progression was significantly faster in patients with a generalized RP phenotype (n = 75; 75%) than that in patients with a sector RP phenotype (n = 25; 25%), in terms of decline rates of the BCVA (P < 0.001) and V4e retinal seeing areas (P < 0.005). The foveal thickness of the photoreceptor-retinal pigment epithelium (PR + RPE) complex correlated significantly with BCVA (Spearman's ρ = 0.733; P < 0.001). CONCLUSION: Based on central visual fields, the optimal window of intervention for RHO-associated RP is before the 5th decade of life. Significant differences in disease progression are present between generalized and sector RP phenotypes. Our findings suggest that the PR + RPE complex is a potential surrogate endpoint for the BCVA in future studies.
AB - PURPOSE: To investigate the natural history of RHO-associated retinitis pigmentosa (RP). METHODS: A multicenter, medical chart review of 100 patients with autosomal dominant RHO-associated RP. RESULTS: Based on visual fields, time-to-event analysis revealed median ages of 52 and 79 years to reach low vision (central visual field <20°) and blindness (central visual field <10°), respectively. For the best-corrected visual acuity (BCVA), the median age to reach mild impairment (20/67 ≤ BCVA < 20/40) was 72 years, whereas this could not be computed for lower acuities. Disease progression was significantly faster in patients with a generalized RP phenotype (n = 75; 75%) than that in patients with a sector RP phenotype (n = 25; 25%), in terms of decline rates of the BCVA (P < 0.001) and V4e retinal seeing areas (P < 0.005). The foveal thickness of the photoreceptor-retinal pigment epithelium (PR + RPE) complex correlated significantly with BCVA (Spearman's ρ = 0.733; P < 0.001). CONCLUSION: Based on central visual fields, the optimal window of intervention for RHO-associated RP is before the 5th decade of life. Significant differences in disease progression are present between generalized and sector RP phenotypes. Our findings suggest that the PR + RPE complex is a potential surrogate endpoint for the BCVA in future studies.
UR - http://www.scopus.com/inward/record.url?scp=85091447612&partnerID=8YFLogxK
U2 - https://doi.org/10.1097/IAE.0000000000002808
DO - https://doi.org/10.1097/IAE.0000000000002808
M3 - Article
C2 - 32301896
SN - 0275-004X
VL - 41
SP - 213
EP - 223
JO - Retina (Philadelphia, Pa.)
JF - Retina (Philadelphia, Pa.)
IS - 1
ER -